Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse

被引:4
作者
Aquilano, Giulia [1 ]
Linner, Agnes [1 ,2 ]
Ygberg, Sofia [3 ,4 ,5 ]
Stoedberg, Tommy [3 ,4 ]
Henckel, Ewa [1 ,2 ]
机构
[1] Karolinska Univ Hosp, Dept Neonatol, Stockholm, Sweden
[2] Karolinska Inst, Dept Clin Sci, Intervent & Technol, Stockholm, Sweden
[3] Karolinska Univ Hosp, Dept Child Neurol, Stockholm, Sweden
[4] Karolinska Inst, Dept Womens & Childrens Hlth, Stockholm, Sweden
[5] Karolinska Univ Hosp, Ctr Inherited Metab Dis CMMS, Stockholm, Sweden
来源
FRONTIERS IN PEDIATRICS | 2022年 / 10卷
关键词
pyridoxine-dependent epilepsy; PDE; neonatal encephalopathy; lactic acidosis; neonatal respiratory distress; LYSINE-RESTRICTED DIET; RESPONSIVE SEIZURES; MUTATIONS; ALDH7A1; ANTIQUITIN; DEFICIENCY; PATIENT;
D O I
10.3389/fped.2022.940103
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.
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页数:5
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